Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L655M
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MYH7

NM_000257.4:p.L655M

Associated Papers

Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling.

Loiben AM et al.

The Journal of Clinical Investigation, 2026

41289020 (PubMed )
Supplement: jci-136-192057-s004.xlsx › Figure_S4G

Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.

Ryu SW et al.

Cardiovascular Diagnosis and Therapy, 2025

41509624 (PubMed )
Supplement: cdt-15-06-1174-supplementary.pdf

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Studying Pathogenetic Contribution of a Variant of Unknown Significance, p.M659I (c.1977G > A) in MYH7, to the Development of Hypertrophic Cardiomyopathy Using CRISPR/Cas9-Engineered Isogenic Induced Pluripotent Stem Cells.

Pavlova SV et al.

International Journal of Molecular Sciences, 2024

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Lesurf R et al.

Npj Genomic Medicine, 2022

35288587 (PubMed )
Supplement: 41525_2022_288_MOESM2_ESM.xlsx › SpTable_1_CodingSnvIndels_CMP

A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction.

Hesaraki M et al.

Frontiers in Cardiovascular Medicine, 2022

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